Search Results - "Beaman, M. Makenzie"

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome by Beaman, M Makenzie, Guidugli, Lucia, Hammer, Monia, Barrows, Chelsea, Gregor, Anne, Lee, Sangmoon, Deak, Kristen L, McDonald, Marie T, Jensen, Courtney, Zaki, Maha S, Masri, Amira T, Hobbs, Charlotte A, Gleeson, Joseph G, Cohen, Jennifer L

“…Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the…”
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Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia by Beaman, M Makenzie, Yin, Weining, Smith, Amanda J, Sears, Patrick R, Leigh, Margaret W, Ferkol, Thomas W, Kearney, Brendan, Olivier, Kenneth N, Kimple, Adam J, Clarke, Shannon, Huggins, Erin, Nading, Erica, Jung, Seung-Hye, Iyengar, Apoorva K, Zou, Xue, Dang, Hong, Barrera, Alejandro, Majoros, William H, Rehder, Catherine W, Reddy, Timothy E, Ostrowski, Lawrence E, Allen, Andrew S, Knowles, Michael R, Zariwala, Maimoona A, Crawford, Gregory E

“…Variation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small…”
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PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism by Ren, Aileen A., Snellings, Daniel A., Su, Yourong S., Hong, Courtney C., Castro, Marco, Tang, Alan T., Detter, Matthew R., Hobson, Nicholas, Girard, Romuald, Romanos, Sharbel, Lightle, Rhonda, Moore, Thomas, Shenkar, Robert, Benavides, Christian, Beaman, M. Makenzie, Müller-Fielitz, Helge, Chen, Mei, Mericko, Patricia, Yang, Jisheng, Sung, Derek C., Lawton, Michael T., Ruppert, J. Michael, Schwaninger, Markus, Körbelin, Jakob, Potente, Michael, Awad, Issam A., Marchuk, Douglas A., Kahn, Mark L.

“…Vascular malformations are thought to be monogenic disorders that result in dysregulated growth of blood vessels. In the brain, cerebral cavernous…”
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Systematic review and meta-analysis of the effect of adverse childhood experiences (ACEs) on brain-derived neurotrophic factor (BDNF) levels by Vyas, Neha, Wimberly, Courtney E., Beaman, M. Makenzie, Kaplan, Samantha J., Rasmussen, Line J.H., Wertz, Jasmin, Gifford, Elizabeth J., Walsh, Kyle M.

“…There is continued interest in identifying dysregulated biomarkers that mediate associations between adverse childhood experiences (ACEs) and negative…”
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Altered sacral neural crest development in Pax3 spina bifida mutants underlies deficits of bladder innervation and function by Deal, Karen K., Chandrashekar, Anoop S., Beaman, M. Makenzie, Branch, Meagan C., Buehler, Dennis P., Conway, Simon J., Southard-Smith, E. Michelle

“…Mouse models of Spina bifida (SB) have been instrumental for identifying genes, developmental processes, and environmental factors that influence neurulation…”
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eP081: Dandy Walker malformation in three unrelated families with biallelic variants in CAPN15 expands the phenotypic spectrum of oculogastrointestinal neurodevelopmental disorder by Beaman, M. Makenzie, Guidugli, Lucia, Hammer, Monia, Barrows, Chelsea, Gregor, Anne, McDonald, Marie, Jensen, Courtney, Lee, Sangmoon, Zaki, Maha, Masri, Amira, Gleeson, Joseph, Cohen, Jennifer L.

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